D424H (p.Asp424His) variant of BTD (Biotinidase)
D424H (p.Asp424His) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotinidase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D424H (p.Asp424His) variant details
- p.Asp424His
- rs13078881
- ClinGen CA090886
- cosmic curated COSV10961
- ClinVar RCV000001977
- Pathogenic
- Biotinidase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.77
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Biotinidase deficiency; not provided)
- EBI: Pathogenic (in BTD deficiency)
- UniProt: Pathogenic (in BTD deficiency)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.19)
- Structural context available
- Cited in: Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by… (PMID 10206677)
- Cited in: Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States… (PMID 10400129)